ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252960
Gene: ALMS1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055935.4:p.Arg2722Ter
NM_015120.4:c.8164C>T