ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580417679
Gene: PHIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2434692
ClinVar RCV Id:
RCV003134823
RCV003778743
RCV004246038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060404.4:p.Ala1616Thr
CA3899345
NM_017934.7:c.4846G>A