ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667139
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459865
ClinVar RCV Id:
RCV000549164
RCV002286752
RCV002350215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Glu1244Gln
CA1713581
NM_015120.4:c.3730G>C