Allele Registry

Canonical Allele Identifier: PA3057494512

Gene: NEFH HGNC NCBI

ClinVar Allele:

1911234

ClinVar RCV:

RCV002615881

ClinVar Variation:

2187595

HGVS (amino-acid)	Matching Registered Transcripts
NP_066554.2:p.Ala652_Lys657dup	CA10174300 NM_021076.4:c.1947_1964dup CA10174307 NM_021076.4:c.1955_1972dup CA10174309 NM_021076.4:c.1964_1965insTGAGAAGGCCAAGTCGCC CA323088262 NM_021076.4:c.1964_1965insTGAGAAAGCCAAGTCCCC CA638955384 NM_021076.4:c.1964_1965insTGAGAAGGCCAAGTCACC CA2656015273 NM_021076.4:c.1964_1965insCGAGAAGGCCAAGTCCCC CA3043563636 NM_021076.4:c.1964_1965insTGAGAAGGCCAAATCCCC