ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495817
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337020
ClinVar RCV Id:
RCV000358463
RCV003910302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ser2048Thr
CA10616150
NM_015120.4:c.6142T>A