ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689815
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111674
RCV001013043
RCV001321828
ClinVar Variation:
54342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro539Ser
CA001146
NM_007297.4:c.1615C>T