ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268471
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112782
RCV001853030
RCV002247447
RCV002390199
ClinVar Variation:
55690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala253Thr
CA003852
NM_007294.4:c.757G>A