ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829700474
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112375
RCV000164710
RCV000212184
RCV001364498
ClinVar Variation:
55254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu449Met
CA002952
NM_007298.3:c.1345T>A