ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687390
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231422
ClinVar RCV Id:
RCV000215014
RCV000226910
RCV000410574
RCV000485971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.His192Leu
CA10580689
NM_007297.4:c.575A>T