ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699112
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37393
ClinVar RCV Id:
RCV000030974
RCV000206829
RCV001798024
RCV000509711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Cys39Phe
CA000773
NM_007298.3:c.116G>T