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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1315395826
Gene: COL3A1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.188988642_188988646delinsCAGTA , CM000664.2:g.188988642_188988646delinsCAGTA
GRCh38
NC_000002.11:g.189853368_189853372delinsCAGTA , CM000664.1:g.189853368_189853372delinsCAGTA
GRCh37
NC_000002.10:g.189561613_189561617delinsCAGTA
NCBI36
NG_007404.1:g.19270_19274delinsCAGTA , LRG_3:g.19270_19274delinsCAGTA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000450867.2:c.635_636+3delinsCAGTA
ENST00000304636.9:c.635_636+3delinsCAGTA
ENST00000304636.7:c.635_636+3delinsCAGTA
ENST00000317840.9:c.635_636+3delinsCAGTA
NM_000090.3:c.635_636+3delinsCAGTA , LRG_3t1:c.635_636+3delinsCAGTA
NM_000090.4:c.635_636+3delinsCAGTA
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