ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811413
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529373
ClinVar RCV Id:
RCV000634781
RCV002406358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ile3546Met
CA1715038
NM_015120.4:c.10638A>G