ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139735126
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965946
ClinVar RCV Id:
RCV001240509
RCV002436947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3679Gln
CA1715105
NM_015120.4:c.11036G>A