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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
Allele Registry
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Canonical Allele Identifier:
CA1697889773
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30897628T= , CM000669.2:g.30897628T=
GRCh38
NC_000007.13:g.30937243T= , CM000669.1:g.30937243T=
GRCh37
NC_000007.12:g.30903768T=
NCBI36
NG_007475.2:g.49235T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000509504.2:c.622-14365T=
Search 100 bp 5'
Search 100 bp 3'