ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828762367
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403945
ClinVar RCV Id:
RCV000469202
RCV001584125
RCV002451062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Gln119Arg
CA1712819
NM_001378454.1:c.356A>G