ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993277
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112358
RCV000165983
RCV001342447
RCV001818228
ClinVar Variation:
55228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Tyr418Cys
CA002906
NM_007299.4:c.1253A>G