ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116911
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4543
ClinVar RCV Id:
RCV000004802
RCV000004801
RCV000168078
RCV000340485
RCV000507071
RCV001270680
RCV001813949
RCV001847582
RCV002426488
RCV003311646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Asn88Ser
CA116909
NM_001130702.2:c.263A>G