ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998220
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111898
RCV000132326
RCV001348685
ClinVar Variation:
54611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser864Leu
CA001704
NM_007300.4:c.2591C>T