ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078528
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411580
ClinVar RCV Id:
RCV000460819
RCV002266964
RCV001836825
RCV002323748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Ala454Ser
CA16613434
NM_001386027.1:c.1360G>T