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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:
CA1149683787
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2567440G= , CM000663.2:g.2567440G=
GRCh38
NC_000001.10:g.2498879G= , CM000663.1:g.2498879G=
GRCh37
NC_000001.9:g.2475539C=
NCBI36
NG_047096.1:g.16076G=
Transcript Alleles
HGVS
Amino-acid Change
NR_121638.1:n.71+835G=
Search 100 bp 5'
Search 100 bp 3'